Dr.

Samir Ayad

IMMUNOLOGIC
DEFICIENCY
(1) Primary:

genetic, present at birth

(2) Secondary:

acquired (e.g. infections,

malnutrition, chemotherapy,
irradiation)

Dr. Samir Ayad

Primary immune deficiencies

(1) Congenital agammaglobulinemia (Brutons) :
- X-linked recessive disorder (male)
- Absence of B lymphocytes:
(a) normal total lymphocyte count in peripheral
blood
(b) serum immunoglobulins (all classes) are
markedly decreased or absent
(c) deficient humoral immunity
recurrent
pyogenic infections 5-6 months after birth
Dr. Samir Ayad

(2) Congenital thymic hypoplasia (DiGeorges

syndrome):
- Developmental defect of the 3rd and 4th
pharyngeal pouches
absence of the thymus &
parathyroid glands
- Lack of T lymphocytes:
(a) decreased total lymphocyte count in blood
(b) deficient C.M.I.
severe viral, fungal,
protozoal infections in infancy
- Hypocalcemia & tetany
Dr. Samir Ayad

(3) Severe combined immunodeficiency (SCID) :

- X-linked or autosomal recessive disorder
- Defect in lymphoid stem cells failure of
development of both T and B lymphocytes,
marked lymphopenia
- Deficient cell-mediated and humoral immune
responses extreme susceptibility to infection
by a wide array of pathogens leading to a serious,
often lethal, disease.
Dr. Samir Ayad

(4) Dysgammaglobulinemia:
- Most common primary immunodeficiency
- Failure of differentiation of B lymphocytes into

IgA-producing plasma cells

- Selective deficiency of IgA
- Decreased secretory IgA

increased incidence

of respiratory and gastrointestinal infections

Dr. Samir Ayad

(5) Wiskott-Aldrich syndrome:

- X-linked recessive disorder (male)
- Thrombocytopenia

bleeding

- Eczema
- Recurrent infections (T cell deficiency and low
serum IgM level)

Dr. Samir Ayad

Secondary (acquired) immune

deficiencies
Acquired Immunodeficiency Syndrome
(AIDS)
Etiology:
Human immunodeficiency virus (HIV), a small

enveloped RNA retrovirus

Dr. Samir Ayad

Transmission:
(1) Sexual contact (homosexual, heterosexual)
(2) Transfusion of blood and blood products

(hemophiliacs, drug addicts sharing needles)

(3) Maternofetal: through placenta, during delivary
or breastfeeding

Dr. Samir Ayad

Pathogenesis:
- Virus attacks helper T cells (CD4)
- Depletion of helper T cells:
(a) depression of CMI and humoral immunity
(b) opportunistic infections
(c) tumors
- Latent infection: insertion of viral genome into
host DNA

Dr. Samir Ayad

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Clinical features:
(1) Early (acute) stage:
- I.P.: 3-6 weeks
- non-specific symptoms: fever, sore throat, skin
rash, headache, myalgia, resolve in 2-3 weeks
(2) Middle (latent) stage:
- Asymptomatic, lasts for years (4-20)
- AIDS- related complex: persistent fever,
diarrhea, weight loss, lymphadenopathy
Dr. Samir Ayad

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(3) Late (immunodeficiency) stage:

- Decline in number of T helper cells (< 200/mm3)
- Opporunistic infections:
(a) Protozoal: Pneumocystis carinii
Toxoplasma gondii
(b) Bacterial: Mycobacterium tuberculosis
Mycobacterium aviumintracellulare
(c) Viral:
Herpes
Cytomegalovirus
(d) Fungal:
Cryptococcus neoformans
Candida albicans
Dr. Samir Ayad

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- Malignancies: Kaposis sarcoma, lymphoma

- Neurological syndromes:
meningoencephalitis,
dementia, opportunistic infections,
lymphoma, peripheral neuropathy

HIV Testing
Primary Test: ELISA (Test for antibodies)
Confirmatory Test: Western Blot (test for antibodies)

Dr. Samir Ayad

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Kaposis sarcoma
Dr. Samir Ayad

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